Variant report

Variant	rs2973050
Chromosome Location	chr5:37817344-37817345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2910708	0.98[ASN][1000 genomes]
rs2910712	0.89[ASN][1000 genomes]
rs2910713	0.90[ASN][1000 genomes]
rs2973048	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973049	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973051	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2973050	UGT3A2	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37811200-37818200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:37812200-37822200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:37813400-37824400	Weak transcription	Fetal Kidney	kidney
4	chr5:37815000-37822200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:37815800-37817400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:37815800-37817400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:37815800-37830600	Weak transcription	Ovary	ovary
8	chr5:37816000-37817800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:37816000-37818200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:37816200-37817400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:37816200-37817400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:37816200-37817400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:37816200-37817600	Genic enhancers	NHDF-Ad	bronchial
14	chr5:37816200-37817800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:37816200-37818000	Enhancers	Brain Hippocampus Middle	brain
16	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:37816400-37817400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:37816400-37817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:37816400-37817400	Enhancers	HSMM	muscle
20	chr5:37816400-37817800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:37816400-37817800	Genic enhancers	Osteobl	bone
22	chr5:37816400-37818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:37816400-37822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:37816600-37817400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:37816600-37817400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:37816600-37817400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:37816600-37817600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:37816600-37817600	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:37816600-37818200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:37816600-37818200	Enhancers	Brain Substantia Nigra	brain
31	chr5:37816600-37818400	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:37816800-37817400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:37816800-37823000	Weak transcription	NHEK	skin
34	chr5:37816800-37830600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:37816800-37831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:37817000-37817400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:37817000-37818000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:37817000-37821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:37817000-37831800	Weak transcription	NH-A	brain
40	chr5:37817200-37817400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:37817200-37817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:37817200-37817400	Enhancers	Fetal Muscle Leg	muscle
43	chr5:37817200-37817600	Enhancers	Fetal Stomach	stomach
44	chr5:37817200-37817600	Enhancers	HSMMtube	muscle
45	chr5:37817200-37825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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